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Table representation of search results timeline featuring number of search results per year.

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Page 1
Genetic etiology of non-syndromic hearing loss in Europe.
Del Castillo I, Morín M, Domínguez-Ruiz M, Moreno-Pelayo MA. Del Castillo I, et al. Hum Genet. 2022 Apr;141(3-4):683-696. doi: 10.1007/s00439-021-02425-6. Epub 2022 Jan 19. Hum Genet. 2022. PMID: 35044523 Review.
Over the years, epidemiological data were scarce because of the large number of involved genes, whose screening was not cost-effective until implementation of massively parallel DNA sequencing. In Europe, the most common form of autosomal recessive NSHI is DFNB1, wh …
Over the years, epidemiological data were scarce because of the large number of involved genes, whose screening was not cost-effective until …
Update of spectrum c.35delG and c.-23+1G>A mutations on the GJB2 gene in individuals with autosomal recessive nonsyndromic hearing loss.
Azadegan-Dehkordi F, Ahmadi R, Koohiyan M, Hashemzadeh-Chaleshtori M. Azadegan-Dehkordi F, et al. Ann Hum Genet. 2019 Jan;83(1):1-10. doi: 10.1111/ahg.12284. Epub 2018 Sep 3. Ann Hum Genet. 2019. PMID: 30175840 Review.
It is associated with more than 1,000 mutations in at least 90 genes. Mutations of the gap junction beta-2 protein (GJB2) gene located in the nonsyndromic hearing loss and deafness (DFNB1) locus (chromosome 13q11-12) are the main causes of autosomal …
It is associated with more than 1,000 mutations in at least 90 genes. Mutations of the gap junction beta-2 protein (GJB2) gene locate …
GJB2-related hearing loss in central Iran: Review of the spectrum and frequency of gene mutations.
Koohiyan M, Koohian F, Azadegan-Dehkordi F. Koohiyan M, et al. Ann Hum Genet. 2020 Mar;84(2):107-113. doi: 10.1111/ahg.12354. Epub 2019 Sep 11. Ann Hum Genet. 2020. PMID: 31512227 Review.
Mutations in the GJB2 gene are a main cause of autosomal-recessive nonsyndromic hearing loss (ARNSHL) in many populations. ...
Mutations in the GJB2 gene are a main cause of autosomal-recessive nonsyndromic hearing loss (ARNSHL) in …
Advances in genetic hearing loss: CIB2 gene.
Jacoszek A, Pollak A, Płoski R, Ołdak M. Jacoszek A, et al. Eur Arch Otorhinolaryngol. 2017 Apr;274(4):1791-1795. doi: 10.1007/s00405-016-4330-9. Epub 2016 Oct 22. Eur Arch Otorhinolaryngol. 2017. PMID: 27771768 Free PMC article. Review.
It can be caused by genetic or environmental factors or both of them. Calcium- and integrin-binding protein 2 (CIB2) is one of the recently identified genes, involved in HI pathogenesis. ...Calcium signaling pathway is crucial for signal transduction in the inner ear, and …
It can be caused by genetic or environmental factors or both of them. Calcium- and integrin-binding protein 2 (CIB2) is one of the re …
Mitochondrial disorders.
Zeviani M, Tiranti V, Piantadosi C. Zeviani M, et al. Medicine (Baltimore). 1998 Jan;77(1):59-72. doi: 10.1097/00005792-199801000-00006. Medicine (Baltimore). 1998. PMID: 9465864 Free article. Review.
These include clinical entities defined on the basis of specific biochemical defects, and also a few autosomal dominant or recessive syndromes associated with multiple deletions or tissue-specific depletion of mtDNA. ...They range from lesions of single tissues or s …
These include clinical entities defined on the basis of specific biochemical defects, and also a few autosomal dominant or recessi …
Monogenic Causes of Low-Frequency Non-Syndromic Hearing Loss.
Gan NS, Oziębło D, Skarżyński H, Ołdak M. Gan NS, et al. Audiol Neurootol. 2023;28(5):327-337. doi: 10.1159/000529464. Epub 2023 Apr 28. Audiol Neurootol. 2023. PMID: 37121227 Free article. Review.
BACKGROUND: Low-frequency non-syndromic hearing loss (LFNSHL) is a rare form of hearing loss (HL). It is defined as HL at low frequencies (2,000 Hz) resulting in a characteristic ascending audiogram. LFNSHL is usually diagnosed postlingually and is progressive, leading to …
BACKGROUND: Low-frequency non-syndromic hearing loss (LFNSHL) is a rare form of hearing loss (HL). It is defined as HL at low frequencies ( …
Autosomal recessive non-syndromic hearing loss genes in Pakistan during the previous three decades.
Shadab M, Abbasi AA, Ejaz A, Ben-Mahmoud A, Gupta V, Kim HG, Vona B. Shadab M, et al. J Cell Mol Med. 2024 Apr;28(8):e18119. doi: 10.1111/jcmm.18119. J Cell Mol Med. 2024. PMID: 38534090 Free PMC article. Review.
The spectrum and frequency of causal variants vary across different genetic ancestries and are more prevalent in populations that practice consanguineous marriages. Pakistan has a rich history of autosomal recessive gene discovery related to non-syndromic hearing lo …
The spectrum and frequency of causal variants vary across different genetic ancestries and are more prevalent in populations that practice c …
Connexin 26 mutations in autosomal recessive deafness disorders: a review.
Apps SA, Rankin WA, Kurmis AP. Apps SA, et al. Int J Audiol. 2007 Feb;46(2):75-81. doi: 10.1080/14992020600582190. Int J Audiol. 2007. PMID: 17365058 Review.
This review explores the association between GJB2 gene mutations, encoding connexin 26 (Cx26), and nonsyndromic hearing loss. Connexins are proteins that form intracellular membrane channels and regulate ion movement between contiguous fluid spaces. ...We aim …
This review explores the association between GJB2 gene mutations, encoding connexin 26 (Cx26), and nonsyndromic hearing los …
Genetic causes of nonsyndromic hearing loss.
Skvorak Giersch AB, Morton CC. Skvorak Giersch AB, et al. Curr Opin Pediatr. 1999 Dec;11(6):551-7. doi: 10.1097/00008480-199912000-00014. Curr Opin Pediatr. 1999. PMID: 10590915 Review.
Recent studies of hearing and deafness have identified a dozen genes that cause nonsyndromic hearing disorders. Deafness can be inherited in an autosomal recessive, autosomal dominant, X-linked, or mitochondrial manner. Mutations in one gene, connexin 26 (enc …
Recent studies of hearing and deafness have identified a dozen genes that cause nonsyndromic hearing disorders. Deafness can be inherited in …
Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics?
Hilgert N, Smith RJH, Van Camp G. Hilgert N, et al. Mutat Res. 2009 Mar-Jun;681(2-3):189-196. doi: 10.1016/j.mrrev.2008.08.002. Epub 2008 Aug 29. Mutat Res. 2009. PMID: 18804553 Free PMC article. Review.
The most frequent genes implicated in autosomal recessive nonsyndromic hearing loss are GJB2, which is responsible for more than half of cases, followed by SLC26A4, MYO15A, OTOF, CDH23 and TMC1. None of the genes associated with autosomal …
The most frequent genes implicated in autosomal recessive nonsyndromic hearing loss are GJB2, which is re …
11 results